Details

Autor(en) / Beteiligte

• Vesterhus, Mette
• Ræder, Helge
• Aurlien, Harald
• Gjesdal, Clara G
• Bredrup, Cecilie
• Holm, Pål I
• Molven, Anders
• Bindoff, Laurence
• Berstad, Arnold
• Njølstad, Pål R

Titel

Neurological Features and Enzyme Therapy in Patients With Endocrine and Exocrine Pancreas Dysfunction Due to CEL Mutations

Ist Teil von

• Diabetes care, 2008-09, Vol.31 (9), p.1738-1740

Ort / Verlag

United States: American Diabetes Association

Erscheinungsjahr

2008

Quelle

Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals

Beschreibungen/Notizen

• OBJECTIVE:--To further define clinical features associated with the syndrome of diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl-ester lipase (CEL) gene and to assess the effects of pancreatic enzyme substitution therapy. RESEARCH DESIGN AND METHODS--Nine patients with CEL gene mutation, exocrine deficiency, and diabetes were treated and followed for 30 months. RESULTS:--Treatment improved symptoms in seven of nine patients. Exocrine and endocrine function assessed by fecal elastase and A1C were not affected, although fecal lipid excretion was reduced. Vitamin E was low in all patients but increased with treatment (P < 0.001 at 30 months) and improved in five subjects. A predominantly demyelinating neuropathy was seen in a majority of patients, and carpal tunnel syndrome was common. CONCLUSIONS:--Pancreatic enzyme substitution alleviated symptoms and malabsorption and normalized vitamin E levels. Glycemic control was not significantly affected. The CEL syndrome seems associated with a demyelinating neuropathology.